Elaine and Carolyn recently visited us at the Institute of Cancer Research, London. They were here to film a video which will be online soon. We gave them a tour of our TGLclinical lab where they saw what happened to the blood sample they had given for BRCA gene testing: First, DNA from the sample is sequenced to generate genetic data, Next, the genetic data is analysed to see if there are mutations. Mutations in the BRCA1 and BRCA2 genes cause 1000 ovarian cancer cases in the UK every year.

While they were at the ICR, we had a chance to talk with them about their cancer and genetic testing experiences.

Elaine’s story

Elaine was diagnosed with ovarian cancer over 10 years ago. At the time, BRCA gene testing was only available to women with a strong family history of cancer, which Elaine does not have. Elaine had major abdominal surgery and chemotherapy, and thankfully has remained well. She now only has annual check-ups. During one of these regular check-ups she was offered genetic testing through our mainstreaming cancer genetics programme, which is working to make gene testing available to any cancer patient that can benefit. Elaine was sure she wanted to have the test and a few weeks later she got the result and an appointment in our genetics clinic. Elaine has a BRCA2 mutation which caused her ovarian cancer. If she were to have any further trouble from ovarian cancer, this information will help decide the best treatment for her. The mutation also puts her at higher risk of breast cancer and so she is now having extra breast cancer surveillance. She has been discussing her options with genetics and is considering whether to have mastectomy to reduce her risk of breast cancer.

“Having the BRCA2 gene mutation and knowing about it means that I can now move forward.”

Carolyn’s story

When Carolyn was diagnosed with breast cancer many years ago, genetic testing wasn’t available to her, even though her mother had also had breast cancer. Fourteen years later she was diagnosed with ovarian cancer and was offered testing at one of her cancer clinic visits through the mainstreaming pathway. She discussed it with the nurse, read the information sheet and was clear she wanted the test. A few weeks later she found out she has a BRCA1 mutation.

“I was pleased to have the information,” Carolyn said, “to realise why we had so much cancer in the family.”

The information has helped her treatment too. Carolyn has been treated with a PARP inhibitor, olaparib, which specifically targets ovarian cancers due to BRCA mutations. Without the genetic testing she would not have been eligible for this treatment, which is working very well for her. Carolyn was also very pleased to be able to give the information to her two daughters, who have been able to get much better information about their own risk of cancer, now that the cause of cancer in the family is known.

Ovarian cancer patients want access to BRCA testing

These stories illustrate the value ovarian cancer patients place on genetic testing. The test result helps patients and doctors decide on the best treatment. It also provides family members with better information about their cancer risk and can help them to prevent getting cancer in the first place.

The patient-centred pathway we have developed helps to ensure all eligible patients are offered testing and makes accessing testing much easier. Hundreds of patients at the Royal Marsden Hospital have now had testing through the pathway and their feedback has been overwhelmingly supportive. Like Elaine and Carolyn, they feel testing empowers them with information that helps them make decisions.

You can find out more about the pathway here. Many other centres in the UK are now adopting it. We also have research papers coming out soon that give more details about how we developed and validated the mainstreaming genetic testing pathway for ovarian cancer patients.

Video coming soon!

Finally, you’ll be able to see more of Elaine and Carolyn in a short film that will be online soon. Keep an eye on our website and Twitter account, or sign up to our mailing list and we will keep you posted with everything we are doing to help treat and prevent cancer.

This time last year, 125 women with ovarian cancer had benefitted from BRCA1 and BRCA2 gene testing through the programme’s ‘mainstream’ model of gene testing, where testing is carried out through existing oncology appointments, rather than separate appointments with genetics teams. This is faster, cheaper and more patient-centred.

One year later, 300 women with ovarian cancer have now benefited at the Royal Marsden Hospital.

A survey of some of these women found that:

99% (104/105) were pleased they had the genetic test

97% (102/105) were happy to have testing through oncology

For many of these women, the result of their BRCA1 and BRCA2 gene test had a direct impact on their immediate cancer management. The results of gene tests can provide information that helps doctors provide the best possible management for the patient. This could mean choosing the most appropriate surgery, optimised screening, or selecting the best drugs to use.

Importantly, the benefits of providing mainstream testing for women with ovarian cancer are now far more widely recognised:

In the UK a number of NHS gene testing services are implementing their own mainstream gene testing models, with some utilising the resources developed by the programme, which are freely available on our website.

An international study has been initiated by AstraZeneca, which is trialling the mainstream model developed by the MCG programme in the United States, Spain and Italy.

Access to gene testing for women with ovarian cancer has made significant progress In the UK and overseas since WOCD last year, but much more still needs to be done to ensure that more people can benefit, and that all women with ovarian cancer have access to BRCA1 and BRCA2 gene testing.

Developing the infrastructure, processes and capabilities required for cancer gene testing to become routinely available to those that can benefit is an essential component of the Mainstreaming Cancer Genetics (MCG) programme.

Today we have published a report of a national consultation which we held with senior clinical representatives from all 24 UK NHS cancer genetic services.

The report, published in Genome Medicine, makes the following key recommendations and key challenges to delivering optimal gene testing for people with cancer and their families in the UK:

Key recommendations

Mainstreaming of cancer gene testing, with tests in cancer patients performed through the routine cancer patient pathway, is likely to be the optimal approach to deliver the required volume of tests.

Mainstreaming should be implemented in collaboration with genetics, who should continue to see any individuals found to have mutations, and any complex cases.

Consistent clinical interpretation of variants is required. Improved training and support for geneticists in clinical variant interpretation together with improved automated interpretation pipelines should be developed.

A sustainable model of resource allocation that promotes and supports this mainstreamed model of service delivery is required.

Key challenges identified

Lack of capacity of cancer genetic services at a time of greatly increased demand for cancer gene testing from patients and clinicians.

Education of non-geneticists to ensure appropriate information and support is provided to the patients they test.

Improved education of genetic services in clinical interpretation and management of genetic variants.

Sufficient and appropriately configured funding.

This national consultation with UK NHS cancer genetic services is a key component of the MCG programme’s ongoing Implementation and Education & Engagement activities, and complements previous consultations held by the programme with UK molecular genetics laboratories and UK cancer charities.

Developing the infrastructure, processes and capabilities required for routine gene testing for cancer patients is a core component of the Mainstreaming Cancer Genetics (MCG) programme.

We have now fully implemented a ‘mainstream’ BRCA gene testing pathway for ovarian cancer patients at the Royal Marsden Hospital. This pathway allows patients to access BRCA testing through their routine oncology appointments. As well as being more flexible and patient-centred, this ‘mainstream’ gene testing pathway is faster and cheaper than traditional pathways, which require all patients to be referred to genetics to access testing.

200 Royal Marsden ovarian cancer patients have now received BRCA gene tests through the mainstream pathway.

Every woman with ovarian cancer offered a BRCA test chose to have testing.

A survey of women who received BRCA tests through the mainstream pathway showed that:

100% (77/77) were happy they had the test

99% (76/77) were happy to have the test through oncology

17% of women with ovarian cancer tested were found to have a BRCA mutation.

The genetic test results help the cancer team in deciding the best clinical management for the patient. They also provide information about the risk of future cancer, which is higher in the women with a BRCA mutation. All patients with mutations automatically have an appointment with genetics, so that the implications for themselves and their families can be discussed. Those without mutations can also have appointments with genetics should they wish to.

The mainstream BRCA gene testing pathway has now been adopted as standard practice by the Royal Marsden; all women with non-mucinous ovarian cancer are now routinely offered BRCA testing as a standard part of their care.

Developing the laboratory testing and analytical capabilities required for cancer predisposition gene testing to become routinely available to those that can benefit is an essential component of the Mainstreaming Cancer Genetics (MCG) programme.

The MCG programme has developed, in collaboration with Illumina, Inc., the TruSight Cancer panel, which tests for 97 cancer predisposition genes. The panel is already being used to test for BRCA gene mutations in patients at the Royal Marsden Hospital through TGLclinical, a state-of-the-art clinical testing laboratory established at the Institute of Cancer Research (ICR). The technical, analytical and interpretive pipelines developed by the programme enable Next-Generation Sequencing (NGS) techniques such as TruSight Cancer testing to be used in parallel with traditional methods for clinical gene testing.

To help facilitate increased cancer predisposition gene testing in the UK, the programme held a consultation on Friday 4th July with senior representatives from all 23 UK Molecular Genetics Laboratories carrying out germline genetic testing.

The group discussed both the opportunities and challenges facing UK Molecular Genetics Laboratories. There were lively debates about the optimal models for delivering testing, data analysis and interpretation at the scale and speed required to meet the needs of people with cancer.

A survey of attendees prior to the event produced some interesting results, and raised further questions.

When asked if rationalising gene testing to fewer centres was the optimal way of delivering more testing, attendees gave a mixed response, with 43% answering ‘yes’, 33% ‘no’ and all others abstaining. Group discussions delved deeper, resulting in a strong consensus that UK testing should take a mixed-model approach, potentially with panel/exome/genome testing carried out by centralised service(s), with validation of results and predictive testing in family members conducted locally.

It was also clear that UK genetic testing laboratories are actively developing new sequencing technologies, 76% of laboratories are already using NGS in clinical testing, and 57% are using/plan to use the TruSight Cancer panel.

However, there are significant challenges to overcome. Discussions highlighted inequity in access to testing and inconsistencies and inefficiencies in how results are analysed, interpreted and reported. In particular sharing of data between labs on methods and variants is limited. All attendees agreed that improvements could and should be made to existing systems to facilitate greater consistency, transparency and equity of cancer predisposition gene testing.

The consultation discussions are being fed into the delivery of the MCG programme aims.

In order to help achieve this, the programme has developed a flexible, patient-centred model for gene testing, which is faster and less costly than traditional models. The ‘mainstream’ gene testing model brings the test directly to the patient through routine oncology appointments, allowing more people with cancer, and their families, to benefit.

Approximately 15% of ovarian cancers are due to a mutation in the cancer predisposition genes BRCA1 or BRCA2. Knowing whether or not a person has a mutation provides vital information about the cause of cancer, risks of developing future cancers and can aid decisions about the best treatments and drugs to use. It also provides important information about risks to relatives.

The ‘mainstream’ model of gene testing has been in operation at the Royal Marsden since July 2013, and over 125 women with ovarian cancer have now benefitted from BRCA1 and BRCA2 gene testing.

Every woman who was offered a BRCA1 and BRCA2 gene test accepted it, and when surveyed all were pleased they had the gene test. 98% of those surveyed said they were happy to have the gene test at one of their existing oncology appointments.

Plans are now underway to roll out the ‘mainstream’ model of gene testing to other NHS centres so many more women with ovarian cancer can benefit.

The aim of the Mainstreaming Cancer Genetics (MCG) programme is to make access to gene testing part of routine cancer patient care. This requires transformational change in many different areas.

This month, BBC Radio 4’s Woman’s Hour announced its ‘Power List 2014 – Game Changers’ which identifies the top female ‘game changers’ in the UK today. At number three was the director of the MCG programme, Professor Nazneen Rahman.

Prof Rahman was included for her team’s work in identifying the genes that cause cancer and developing the tests and processes to translate these for patient benefit, including the ‘mainstream’ testing pathway developed through the MCG programme.

The MCG programme has already delivered significant change within the Royal Marsden, using new technologies and clinical pathways to test more genes in more people. A flexible, patient-centred testing pathway, which brings the test directly to the patient through routine oncology appointments has been developed and piloted. It is now standard practice for ovarian cancer patients in the hospital.

Professor Rahman and the MCG programme are now working hard to make the new tests and processes available across the NHS so that as many cancer patients as possible can benefit.

Engaging with clinicians, patients and the public to enhance understanding of the benefits, availability and implications of genetic testing for people with cancer is a key aim of the Mainstreaming Cancer Genetics (MCG) programme.

Towards this aim, the MCG programme held a consultation event for representatives from any UK cancer charity on Friday 14th February at the Royal Marsden Education & Conference Centre. The aim of the event was to inform cancer charities and other organisations of the work being carried out on the MCG programme, and to learn about how gene testing affects these organisations and the people they represent.

The event was attended by a wide range of representatives including those from breast, ovarian, colorectal, prostate, blood, bone and brain cancer charities. Also in attendance were representatives from patient support and advisory services, policy makers and practising clinicians.

When surveyed, 100% of attendees agreed that gene testing can provide important information for the management of cancer. In addition 94% believed there is increasing interest from patients to have gene testing.

Strikingly, 100% of those attending thought that cancer patients should have access to gene testing, and 97% believed that the NHS should adapt to gain maximum benefit of genetic information for its patients.

Initially, only 12% felt confident that the NHS will adapt to gain maximum benefit of genetic information for its patients, highlighting the importance of the MCG programme. However, at the end of the event, there was strong consensus that cancer charities and related organisations have a key role to play, with 82% stating that they believe their organisation can help to improve access to gene testing.

The event included talks from Professor Nazneen Rahman, Head of Genetics at the Institute of Cancer Research (ICR) and the Cancer Genetics Clinical Unit at The Royal Marsden, Alastair Kent, Director, Genetic Alliance UK and Dr Susana Banerjee, Consultant Medical Oncologist at The Royal Marsden.

Developing the infrastructure, processes and capabilities required for routine genetic testing of cancer patients is an essential component of the Mainstreaming Cancer Genetics (MCG) programme.

To deliver this, the programme has developed an ‘oncogenetic’ gene testing pathway, which brings gene testing directly to the patient through their existing oncology appointments. Previously, patients could only have a gene test via referral to genetics departments.

The oncogenetic pathway allows members of the cancer team who have completed online training to order gene tests for eligible patients directly, but retains the flexibility to refer patients to genetics if more detailed discussions will be helpful.

Any patient found to have a gene mutation is seen by a geneticist. Those with normal results can be referred in the standard manner, if required. This represents a more patient-centred, flexible gene testing service. It also allows more people to have access to gene testing.

More than 100 ovarian cancer patients have now benefitted from BRCA1 and BRCA2 gene tests via the oncogenetic gene testing pathway developed by the programme. Formal evaluation is underway. To date the response from patients and clinicians has been very positive.

In 2013 NICE recommended people with >10% chance of having a mutation in either the BRCA1 or BRCA2 gene should be offered testing. This includes >10,000 cancer patients per year. However, limited capacity and high costs of traditional gene testing pathways limits the BRCA1 and BRCA2 testing doctors are currently able to provide for their patients. The oncogenetic gene testing pathway could be used to deliver the NICE recommendations cost-effectively.

This success of the pathway was communicated to the press at an event held on Wednesday 22nd January 2014. View the press release here.

Engaging with clinicians, patients and the public to enhance understanding of the benefits, availability and implications of genetic testing for people with cancer is a key aim of the Mainstreaming Cancer Genetics (MCG) programme.

Towards this aim, the programme is holding a consultation with UK cancer charities from 2pm-5pm on Friday 14th February 2014 at the RMH Education and Conference Centre, London SW3 6JJ. The event will be free of charge and open to any UK cancer charity wishing to attend. ( download the flyer).

The event will include interactive talks from Professor Nazneen Rahman, Head of the Cancer Genetics Clinical Unit at The Royal Marsden NHS Foundation Trust and the Division of Genetics and Epidemiology at the Institute of Cancer Research (ICR), and Alastair Kent, Director, Genetic Alliance UK.

The day will provide information about how genetic information can be used to help people with cancer and their families. It will also give cancer charities the opportunity to communicate how genetic testing affects them and the people they represent.